Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33486 | 100681;100682;100683 | chr2:178536291;178536290;178536289 | chr2:179401018;179401017;179401016 |
| N2AB | 31845 | 95758;95759;95760 | chr2:178536291;178536290;178536289 | chr2:179401018;179401017;179401016 |
| N2A | 30918 | 92977;92978;92979 | chr2:178536291;178536290;178536289 | chr2:179401018;179401017;179401016 |
| N2B | 24421 | 73486;73487;73488 | chr2:178536291;178536290;178536289 | chr2:179401018;179401017;179401016 |
| Novex-1 | 24546 | 73861;73862;73863 | chr2:178536291;178536290;178536289 | chr2:179401018;179401017;179401016 |
| Novex-2 | 24613 | 74062;74063;74064 | chr2:178536291;178536290;178536289 | chr2:179401018;179401017;179401016 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1457955495  |
-0.883 | 0.044 | N | 0.422 | 0.113 | 0.200317383148 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/A | rs1457955495 |
-0.883 | 0.044 | N | 0.422 | 0.113 | 0.200317383148 | gnomAD-4.0.0 | 4.77497E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57574E-06 | 0 | 0 |
| T/I | rs1024625225 |
None | None | N | 0.178 | 0.059 | 0.119812018005 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1024625225 |
None | None | N | 0.178 | 0.059 | 0.119812018005 | gnomAD-4.0.0 | 1.85922E-06 | None | None | None | None | N | None | 1.33476E-05 | 3.33467E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | None | None | 0.612 | N | 0.605 | 0.158 | 0.285698343383 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| T/S | None | None | 0.044 | N | 0.499 | 0.12 | 0.126345400529 | gnomAD-4.0.0 | 6.84277E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0905 | likely_benign | 0.0855 | benign | -0.698 | Destabilizing | 0.044 | N | 0.422 | neutral | N | 0.499266684 | None | None | N |
| T/C | 0.2889 | likely_benign | 0.2393 | benign | -0.571 | Destabilizing | 0.96 | D | 0.508 | neutral | None | None | None | None | N |
| T/D | 0.5407 | ambiguous | 0.4967 | ambiguous | -0.186 | Destabilizing | 0.128 | N | 0.647 | neutral | None | None | None | None | N |
| T/E | 0.3233 | likely_benign | 0.2967 | benign | -0.153 | Destabilizing | 0.227 | N | 0.662 | prob.neutral | None | None | None | None | N |
| T/F | 0.146 | likely_benign | 0.1299 | benign | -0.622 | Destabilizing | 0.507 | D | 0.685 | prob.delet. | None | None | None | None | N |
| T/G | 0.4003 | ambiguous | 0.3413 | ambiguous | -0.991 | Destabilizing | 0.128 | N | 0.686 | prob.delet. | None | None | None | None | N |
| T/H | 0.2534 | likely_benign | 0.212 | benign | -1.239 | Destabilizing | 0.795 | D | 0.625 | neutral | None | None | None | None | N |
| T/I | 0.0551 | likely_benign | 0.0486 | benign | -0.002 | Destabilizing | None | N | 0.178 | neutral | N | 0.416592159 | None | None | N |
| T/K | 0.1798 | likely_benign | 0.18 | benign | -0.744 | Destabilizing | 0.128 | N | 0.647 | neutral | None | None | None | None | N |
| T/L | 0.0572 | likely_benign | 0.0523 | benign | -0.002 | Destabilizing | 0.009 | N | 0.337 | neutral | None | None | None | None | N |
| T/M | 0.0732 | likely_benign | 0.0685 | benign | 0.062 | Stabilizing | 0.507 | D | 0.53 | neutral | None | None | None | None | N |
| T/N | 0.1502 | likely_benign | 0.1275 | benign | -0.783 | Destabilizing | 0.001 | N | 0.196 | neutral | N | 0.518545878 | None | None | N |
| T/P | 0.2491 | likely_benign | 0.2404 | benign | -0.2 | Destabilizing | 0.612 | D | 0.605 | neutral | N | 0.518199161 | None | None | N |
| T/Q | 0.2153 | likely_benign | 0.1956 | benign | -0.847 | Destabilizing | 0.507 | D | 0.577 | neutral | None | None | None | None | N |
| T/R | 0.1501 | likely_benign | 0.159 | benign | -0.598 | Destabilizing | 0.507 | D | 0.605 | neutral | None | None | None | None | N |
| T/S | 0.1466 | likely_benign | 0.1248 | benign | -1.052 | Destabilizing | 0.044 | N | 0.499 | neutral | N | 0.478265908 | None | None | N |
| T/V | 0.0664 | likely_benign | 0.0576 | benign | -0.2 | Destabilizing | None | N | 0.072 | neutral | None | None | None | None | N |
| T/W | 0.5554 | ambiguous | 0.5423 | ambiguous | -0.603 | Destabilizing | 0.96 | D | 0.667 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2102 | likely_benign | 0.2009 | benign | -0.352 | Destabilizing | 0.676 | D | 0.677 | prob.neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.